Muenke syndrome.
D001120:Arginine; D001842:Bone and Bones / Q000002:abnormalities*; D003398:Craniosynostoses / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000266:history / Q000473:pathology; D019066:Facies; D005260:Female; D005799:Genes, Dominant; D049673:History, 20th Century; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D019683:Penetrance; D011392:Proline; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D013577:Syndrome; D014057:Tomography, X-Ray Computed
D017468:Receptors, Fibroblast Growth Factor; D001120:Arginine; D011392:Proline; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3